Incidental Mutation 'R7405:Uchl5'
ID 574481
Institutional Source Beutler Lab
Gene Symbol Uchl5
Ensembl Gene ENSMUSG00000018189
Gene Name ubiquitin carboxyl-terminal esterase L5
Synonyms Uch37, 5830413B11Rik
MMRRC Submission 045376-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 143653010-143683204 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 143675752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 276 (Q276*)
Ref Sequence ENSEMBL: ENSMUSP00000140106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018333] [ENSMUST00000185493] [ENSMUST00000185539] [ENSMUST00000189936]
AlphaFold Q9WUP7
PDB Structure Crystal structure of mUCH37-hRPN13 CTD complex [X-RAY DIFFRACTION]
Crystal Structure of mUCH37-hRPN13 CTD-hUb complex [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000018333
AA Change: Q275*
SMART Domains Protein: ENSMUSP00000018333
Gene: ENSMUSG00000018189
AA Change: Q275*

DomainStartEndE-ValueType
Pfam:Peptidase_C12 8 209 3.7e-73 PFAM
low complexity region 314 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185493
SMART Domains Protein: ENSMUSP00000139668
Gene: ENSMUSG00000018189

DomainStartEndE-ValueType
Pfam:Peptidase_C12 7 85 3e-20 PFAM
Pfam:Peptidase_C12 66 169 3.4e-29 PFAM
coiled coil region 177 204 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000185539
AA Change: Q119*
SMART Domains Protein: ENSMUSP00000140681
Gene: ENSMUSG00000018189
AA Change: Q119*

DomainStartEndE-ValueType
Pfam:Peptidase_C12 1 54 2e-19 PFAM
coiled coil region 62 89 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000189936
AA Change: Q276*
SMART Domains Protein: ENSMUSP00000140106
Gene: ENSMUSG00000018189
AA Change: Q276*

DomainStartEndE-ValueType
Pfam:Peptidase_C12 7 211 1.2e-75 PFAM
low complexity region 314 329 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality associated with abnormal brain development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown Het
Other mutations in Uchl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:Uchl5 APN 1 143,661,864 (GRCm39) splice site probably benign
IGL02084:Uchl5 APN 1 143,677,912 (GRCm39) missense possibly damaging 0.86
IGL03387:Uchl5 APN 1 143,677,940 (GRCm39) missense probably benign 0.38
R0530:Uchl5 UTSW 1 143,670,082 (GRCm39) missense possibly damaging 0.94
R1495:Uchl5 UTSW 1 143,675,675 (GRCm39) missense possibly damaging 0.85
R1521:Uchl5 UTSW 1 143,674,160 (GRCm39) missense possibly damaging 0.92
R4534:Uchl5 UTSW 1 143,661,954 (GRCm39) missense probably benign 0.35
R6579:Uchl5 UTSW 1 143,674,130 (GRCm39) missense probably damaging 1.00
R7383:Uchl5 UTSW 1 143,659,753 (GRCm39) missense probably benign 0.00
R7414:Uchl5 UTSW 1 143,682,433 (GRCm39) missense unknown
R7731:Uchl5 UTSW 1 143,670,275 (GRCm39) missense
R8834:Uchl5 UTSW 1 143,661,968 (GRCm39) nonsense probably null
R9690:Uchl5 UTSW 1 143,670,016 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGGCTAATATTCTTGTCTACAAAGTTG -3'
(R):5'- CAGTGAACTGAGACATCTAACAGG -3'

Sequencing Primer
(F):5'- TTTCCCCCTAAGGAGGAAC -3'
(R):5'- CAGGATAAAAGTCTGTTCATAAGAGC -3'
Posted On 2019-09-13